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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT122, LOC129937552
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IFT122
(V77I)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IFT122
(R113S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IFT122
Single nucleotide variant
(synonymous variant +2 more)
Connective tissue disorder
+4 more
GConflicting classifications of pathogenicity
IFT122
(I257T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
IFT122
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IFT122
(G311R +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFT122
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IFT122
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
IFT122
(R413G +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFT122
(S419N +6 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
IFT122
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IFT122
Single nucleotide variant
(splice acceptor variant)
Cranioectodermal dysplasia 1
+1 more
GPathogenic/Likely pathogenic
IFT122
(R476W +6 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
+1 more
GConflicting classifications of pathogenicity
IFT122
(V560A +6 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
+1 more
GConflicting classifications of pathogenicity
IFT122
(F710S +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia 1
+1 more
GConflicting classifications of pathogenicity
IFT122
Single nucleotide variant
(intron variant)
Cranioectodermal dysplasia
+2 more
GBenign
IFT122
(S529fs +6 more)
Deletion
(frameshift variant)
not provided
GPathogenic
IFT122
(M800L +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IFT122
(A958V +6 more)
Single nucleotide variant
(missense variant)
Cranioectodermal dysplasia 1
+1 more
GUncertain significance
IFT122
Single nucleotide variant
(synonymous variant)
Cranioectodermal dysplasia 1
+1 more
GConflicting classifications of pathogenicity
IFT122
(Y968D +6 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
IFT122
(A1059V +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFT122
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+3 more
GConflicting classifications of pathogenicity
IFT122
(I1133V +6 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
IFT122
(F1214I +6 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
IFT122
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
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